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Page 1
Phenotype diversity associated with TP63 mutations.
Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: schaper j. J Dtsch Dermatol Ges. 2022 Jun;20(6):872-875. doi: 10.1111/ddg.14770. Epub 2022 May 20. J Dtsch Dermatol Ges. 2022. PMID: 35593033 No abstract available.
Phänotypische Vielfalt bei Varianten im TP63-Gen.
Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: schaper j. J Dtsch Dermatol Ges. 2022 Jun;20(6):871-875. doi: 10.1111/ddg.14770_g. J Dtsch Dermatol Ges. 2022. PMID: 35711055 No abstract available.
Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F. Baertling F, et al. Among authors: schaper j. Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8. Metab Brain Dis. 2017. PMID: 27502409
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. Preising MN, et al. Among authors: schaper j. FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25. FASEB J. 2019. PMID: 31345061
S., Bonus, M., Toliat, M. R., Pfleger, C., Altmuller, J., Herebian, D., Beyer, M., Zollner, H. J., Wittsack, H.-J., Schaper, J., Klee, D., Zechner, U., Nurnberg, P., Schipper, J., Schnitzler, A., Gohlke, H., Lorenz, B., Haussinger, D., Bo …
S., Bonus, M., Toliat, M. R., Pfleger, C., Altmuller, J., Herebian, D., Beyer, M., Zollner, H. J., Wittsack, H.-J., …
377 results